COL6A5 c.3342C>G ;(p.I1114M)

Variant ID: 3-130114082-C-G

NM_001278298.1(COL6A5):c.3342C>G;(p.I1114M)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: COL6A5: I1114M
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Prognostic value of extracellular matrix gene mutations and expression in multiple myeloma.

Blood Cancer Journal
Evers, Marietheres M; Schreder, Martin M; Stühmer, Thorsten T; Jundt, Franziska F; Ebert, Regina R; Hartmann, Tanja Nicole TN; Altenbuchinger, Michael M; Rudelius, Martina M; Kuric, Martin M; Rindt, Wyonna Darleen WD; Steinbrunn, Torsten T; Langer, Christian C; Heredia-Guerrero, Sofia Catalina SC; Einsele, Hermann H; Bargou, Ralf Christian RC; Rosenwald, Andreas A; Leich, Ellen E
Publication Date: 2023-03-23

Variant appearance in text: COL6A5: I1114M
PubMed Link: 36959208
Variant Present in the following documents:
  • 41408_2023_817_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: COL6A5: 3342C>G; I1114M; rs1353613
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.

Human Genetics
Walls, W Daniel WD; Moteki, Hideaki H; Thomas, Taylor R TR; Nishio, Shin-Ya SY; Yoshimura, Hidekane H; Iwasa, Yoichiro Y; Frees, Kathy L KL; Nishimura, Carla J CJ; Azaiez, Hela H; Booth, Kevin T KT; Marini, Robert J RJ; Kolbe, Diana L DL; Weaver, A Monique AM; Schaefer, Amanda M AM; Wang, Kai K; Braun, Terry A TA; Usami, Shin-Ichi SI; Barr-Gillespie, Peter G PG; Richardson, Guy P GP; Smith, Richard J RJ; Casavant, Thomas L TL
Publication Date: 2020-10

Variant appearance in text: COL6A5: Ile1114Met; rs1353613
PubMed Link: 32382995
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: COL6A5: 3342C>G; Ile1114Met; rs1353613
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: COL6A5: I1114M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page